Atlas of X-Linked Intellectual Disability Syndromes by Roger E. Stevenson

By Roger E. Stevenson

The Atlas of X-Linked highbrow incapacity Syndromes is a complete and updated precis of the clinically designated problems because of genes at the X chromosome. medical and laboratory information on a hundred and fifty syndromes are provided in a concise and constant demeanour. each one syndrome is outlined and data is supplied on somatic good points, development and improvement, neurological indicators, cognitive functionality, imaging and different laboratory findings, and whilst attainable, the character and localization of the liable gene. Craniofacial and different somatic findings are widely illustrated. A differential matrix accompanies each one syndrome description to help the reader in picking out different X-linked syndromes with overlapping beneficial properties. person syndrome entries are supplemented with nineteen appendices that determine syndromes with universal positive aspects and supply the positioning or mapping limits and serve as of the dependable genes.

The authors have vast event within the scientific and laboratory delineation of X-linked highbrow incapacity. they've got defined new syndromes, locally mapped sickness loci at the X chromosome, and pointed out the genes chargeable for X-linked syndromes.

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Am J Med Genet 43:491, 1992. : A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 74:168, 2004. : Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 364:1435, 2004. : Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 77:41, 2005. : Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

The dentate nucleus and inferior olive are invariably involved. Diff use gliosis was present in the cerebellum with loss of myelinated fibers in the white matter and loss of Purkinje and granule cells in the cortex. 30 Ataxia-Deafness-Dementia, X-linked. Magnetic resonance image showing prominent cerebellar folia and enlarged fourth ventricle. Courtesy of Dr. Morris Levinsohn, Beachwood, Ohio. Comment. Although the recurrence of vomiting, lethargy, and incoordination suggests a metabolic disturbance, none has been found.

Other cases may lack hemoglobin abnormalities altogether. Diagnostic confirmation depends on mutational analysis of the responsible gene. Comment. Although the first cases of Alpha-Thalassemia Intellectual Disability syndrome were ascertained because of mild hematologic abnormalities, subsequent cases were identified because of somatic manifestations. Four other named XLID syndromes (Chudley-Lowry, CarpenterWaziri, Holmes-Gang, and XLID-Arch FingerprintsHypotonia syndromes) have been shown to have mutations of ATRX, as have individuals with intellectual disability and spastic paraplegia and individuals with nonsyndromal XLID.

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